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Results for "SLC39A12"

Variant Events: 14

Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
SLC39A12     1-0065-005chr10:
18345841-18345841
CTintergenicDe novo--Yuen2017 G
SLC39A12     EGAN00001101404chr10:
18331675-18331675
GAexonicDe novononsynonymous SNVNM_001282734
NM_152725
NM_001145195
NM_001282733
c.G1587A
c.G1878A
c.G1989A
c.G1986A
p.M529I
p.M626I
p.M663I
p.M662I
15.23-Satterstrom2020 E
SLC39A12     AU3807302chr10:
18377114-18377114
TCintergenicDe novo--Yuen2017 G
SLC39A12     7-0024-003chr10:
18385202-18385202
CTintergenicDe novo--Yuen2017 G
SLC39A12     7-0024-003chr10:
18395264-18395264
GTintergenicDe novo--Yuen2017 G
SLC39A12     AU4235301chr10:
18281733-18281733
GAintronicDe novo--Yuen2017 G
SLC39A12     7-0068-003chr10:
18276538-18276538
CTexonicDe novosynonymous SNVNM_001282734
NM_001145195
NM_001282733
NM_152725
c.C825T
c.C1227T
c.C1227T
c.C1227T
p.V275V
p.V409V
p.V409V
p.V409V
-8.237E-6Yuen2017 G
SLC39A12     1-0402-004chr10:
18422861-18422861
GAintergenicDe novo--Yuen2017 G
SLC39A12     3-0216-000chr10:
18301517-18301517
GAintronicDe novo--Yuen2017 G
SLC39A12     5-0133-003chr10:
18260443-18260443
TGintronicDe novo--Yuen2017 G
SLC39A12     2-1272-003chr10:
18255315-18255315
CAintronicDe novo--Yuen2016 G
SLC39A12     12261.p1chr10:
18250538-18250538
TCexonicDe novononsynonymous SNVNM_001145195
NM_001282733
NM_152725
c.T290C
c.T290C
c.T290C
p.I97T
p.I97T
p.I97T
11.1-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G
SLC39A12     EGAN00001101334chr10:
18250612-18250613
ATAexonicDe novoframeshift deletionNM_001145195
NM_001282733
NM_152725
c.365delT
c.365delT
c.365delT
p.I122fs
p.I122fs
p.I122fs
--Satterstrom2020 E
SLC39A12     AU045010chr10:
18372712-18372712
CTintergenicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notesView
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